Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6021191
rs6021191
NFATC2
5 0.851 0.120 20 51419700 intron variant A/T snv 4.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs6461639
rs6461639
RAPGEF5
3 0.882 0.120 7 22147337 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs6535455
rs6535455
HPSE
4 0.851 0.160 4 83310951 intron variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs7039798
rs7039798
FPGS
3 0.882 0.120 9 127794947 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs7089424
rs7089424
ARID5B
10 0.752 0.200 10 61992400 intron variant T/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs7286979
rs7286979
EP300
3 0.882 0.120 22 41102623 intron variant G/A snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs7809758
rs7809758
DDC ; FIGNL1
3 0.882 0.120 7 50505635 intron variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs880028
rs880028
DDC ; FIGNL1
3 0.882 0.120 7 50502438 intron variant A/G snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs17007695
rs17007695 		4 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs4748793
rs4748793 		4 0.851 0.120 10 22194082 intergenic variant A/G snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs35201683
rs35201683
HFE
12 0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 0.010 1.000 1 2005 2005
dbSNP: rs368005287
rs368005287
CYP3A4
3 0.882 0.120 7 99762071 stop gained C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs755001634
rs755001634
FOLH1
13 0.763 0.280 11 49154384 stop gained G/A snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs780246573
rs780246573
HFE ; LOC108783645
12 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs797045145
rs797045145
HFE ; LOC108783645
6 0.807 0.240 6 26091479 stop gained G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs80338880
rs80338880
TFR2
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.903 31 2002 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.931 29 2002 2019
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.040 1.000 4 2002 2012
dbSNP: rs1142345
rs1142345
TPMT
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.030 1.000 3 2008 2013
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.030 1.000 3 2013 2017
dbSNP: rs1979277
rs1979277
SHMT1
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.030 1.000 3 2002 2012
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.020 1.000 2 2009 2012
dbSNP: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.020 1.000 2 2010 2015